排序方式: 共有28条查询结果,搜索用时 15 毫秒
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Joanne Ng MD PhD Elisenda Cortès-Saladelafont MD Lucia Abela MD Pichet Termsarasab MD Kshitij Mankad FRCR Sniya Sudhakar FRCR Kathleen M. Gorman MD Simon J.R. Heales PhD Simon Pope PhD Lorenzo Biassoni MSc FRCP FEBNM Barbara Csányi MD John Cain FRCR PhD Karl Rakshi MBChB Helen Coutts MD Sandeep Jayawant MD FRCPCH Rosalind Jefferson MBBS PhD Deborah Hughes MSc Àngels García-Cazorla MD PhD Detelina Grozeva PhD F. Lucy Raymond MD PhD Belén Pérez-Dueñas MD PhD Christian De Goede MD Toni S. Pearson MD Esther Meyer PhD Manju A. Kurian MD PhD 《Movement disorders》2020,35(8):1357-1368
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Florence C.F. Chang FRACP Ana Westenberger PhD Russell C. Dale PhD Martin Smith PhD FRCPCH Hardev S. Pall FRCP Belen Perez‐Dueñas MD PhD Padraic Grattan‐Smith MD Robert A. Ouvrier MD FRACP Neil Mahant FRACP PhD Bernadette C. Hanna MBBS Matthew Hunter FRACP John A. Lawson FRACP PhD Christoph Max MD Rani Sachdev MD Esther Meyer PhD Dennis Crimmins FRACP Donald Pryor FRACP John G.L. Morris MD Alex Münchau MD Detelina Grozeva PhD Keren J. Carss PhD Lucy Raymond PhD FRCP Manju A. Kurian PhD MRCPCH Christine Klein MD Victor S.C. Fung PhD FRACP 《Movement disorders》2016,31(7):1033-1040
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A thermophilic actinomycete strain Thermoactinomyces sp. 21E producing a highly thermostable serine collagenase was isolated from Bulgarian soil. The collagenase, produced extracellular by Thermoactinomyces sp. 21E, was purified to homogeneity by heat treatment, ultrafiltration, saturation with ammonium sulfate and gel filtration chromatography with a 101-fold increase in specific activity and 58% recovery. The collagenase has a relative molecular mass of 50000 by SDS-PAGE. The optimum temperature for the enzyme activity was 60-65 degrees C in the absence of Ca(2+) and 70-75 degrees C in the presence of Ca(2+). About 40% of the original activity remaining after incubation at 85 degrees C for 30 min in the presence of Ca(2+). The optimum pH for the enzyme activity was 9.0-9.5 and the enzyme was stable for 1h at 70 degrees C in the pH range from 7.5 to 12.5. The collagenase was strongly inhibited by active-site inhibitors of serine protease PMSF and DFP, which indicated that the enzyme is serine protease. The enzyme activity was completely inhibited by Hg(2+), Cu(2+) and Fe(2+). However, Ca(2+ )strongly activated the collagenase activity. The collagenase from Thermoactinomyces sp. 21E showed high activity toward type I collagen, acid-soluble collagen, gelatin and Pz-PLGPR. However, elastin for collagenase was inert as substrate. The properties of the collagenase from strain 21E suggest that this enzyme is a new collagenolytic protease that differs from the collagenases and serine proteases reported so far. 相似文献
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Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder 总被引:8,自引:0,他引:8
Williams NM Green EK Macgregor S Dwyer S Norton N Williams H Raybould R Grozeva D Hamshere M Zammit S Jones L Cardno A Kirov G Jones I O'Donovan MC Owen MJ Craddock N 《Archives of general psychiatry》2006,63(4):366-373
CONTEXT: Variation at the DAOA/G30 locus has been described to be associated with both schizophrenia and bipolar disorder, but there is little consistency between studies of the tested polymorphisms or variants showing association. OBJECTIVES: To obtain a stringent replication of association in large samples of both disorders using consistent clinical and laboratory methods, and to test the hypothesis that association at DAOA/G30 identifies an underlying domain of psychopathological abnormalities that cuts across traditional diagnostic categories. DESIGN: A systematic study of polymorphisms at DAOA/G30 using genetic case-control association analysis. SETTING: Subjects were unrelated and ascertained from general psychiatric inpatient and outpatient services. PARTICIPANTS: White persons from the United Kingdom meeting criteria for DSM-IV schizophrenia (n = 709) or bipolar I disorder (n = 706) and 1416 ethnically matched controls. METHODS: Nine polymorphisms that tag common genetic variations at DAOA/G30 were genotyped in all of the individuals, and comparisons were made between affected and unaffected individuals. RESULTS: We identified significant association (P = .01-.047) between 3 single-nucleotide polymorphisms and bipolar disorder but failed to find association with schizophrenia. Analyses across the traditional diagnostic categories revealed significant evidence (P = .002-.02) for association with 4 single-nucleotide polymorphisms in the subset of cases (n = 818) in which episodes of major mood disorder had occurred (gene-wide P = .009). We found a similar pattern of association in bipolar cases and in schizophrenia cases in which individuals had experienced major mood disorder. In contrast, we found no evidence for association in the subset of cases (n = 1153) in which psychotic features occurred (all P>.08). CONCLUSIONS: Despite being originally described as a schizophrenia susceptibility locus, our data suggest that variation at the DAOA/G30 locus does not primarily increase susceptibility for prototypical schizophrenia or psychosis. Instead, our results imply that variation at the DAOA/G30 locus influences susceptibility to episodes of mood disorder across the traditional bipolar and schizophrenia categories. 相似文献
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Elaine K. Green Katherine Gordon‐Smith Susan M. Burge Detelina Grozeva Colin S. Munro Sherine Tavadia Lisa Jones Nicholoas Craddock 《The Journal of dermatology》2013,40(4):259-266
Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelated individuals with DD to identify the pathogenic mutations. We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. Forty‐nine (74%) are unique to an individual and 17 (26%) were found in more than one individual or overlap with previously identified variants. The results suggest that mutations in ATP2A2 may not be as family‐specific as first thought. The spectrum of mutations identified will inform understanding of the pathogenesis of DD. 相似文献
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Stoycho D. Stoev N. Grozeva R. Simeonov I. Borisov H. Hubenov Y. Nikolov M. Tsaneva S. Lazarova 《Experimental and toxicologic pathology》2003,55(4):309-314
Pathomorphological investigations of internal organs were made in sheep given sublethal doses of cadmium. Early histological damages in kidneys were established by renal biopsy in some experimental animals. The main histological changes were characterized by granular degeneration in proximal tubules and glomerular endothelial proliferation in kidneys, granular degeneration in hepatocytes, pericapillary oedema and activation of capillary endothelium and Kupffer cells in liver, oedematous and degenerative changes in cerebrum and in the region of Purkinje cells of cerebellum, hyperplasia and proliferation of alveolar epithelium and perivascular or peribronchial mononuclear cell infiltration in lung, and degenerative changes in the medulla and zona glomerulosa of adrenal glands. 相似文献
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Colleen McClain Jacobson Ryan M. Hill Jeremy W. Pettit Dima Grozeva 《Archives of Suicide Research》2013,17(4):401-413
Non-suicidal self-injury (NSSI), the intentional damage to body tissue without the intent to die, is a prevalent public health problem in the U.S. and around the world. The current study sought to identify intrapersonal (emotional reactivity) and interpersonal (emotional expressiveness to others) correlates of NSSI in order to provide insight into how to best tailor prevention and treatment efforts. Four hundred and forty nine college students were surveyed about various psychological characteristics as well as engagement in NSSI. Results indicated that those who have difficulty expressing emotions are at an increased risk for NSSI even after controlling for depressive symptoms and that emotional expressiveness acts as a partial mediator between depression and NSSI. Emotional expressiveness should be a target of treatment among people who engage in NSSI. 相似文献